Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_assertion> ?p ?o ?g. }
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- NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_assertion type Assertion NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_head.
- NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_assertion wasGeneratedBy ECO_0000203 NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_provenance.
- NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_assertion wasDerivedFrom befree-20140225 NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_provenance.
- NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_assertion SIO_000772 22621957 NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_provenance.
- NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_assertion evidence source_evidence_literature NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_provenance.
- NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_assertion description "[Mutations in the SP110 gene result in infantile onset of the autosomal recessive primary immunodeficiency disease veno-occlusive disease with immunodeficiency syndrome (VODI), which is characterized by hypogammaglobulinemia, T-cell dysfunction, and a high frequency of hepatic veno-occlusive disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP661488.RAhkoV39L4MKAiVoZmDiPW9ofhbbSYiESF7rQnAIo64DQ130_provenance.